Abstract 

Cancer diagnostics and therapy increasingly rely on genomic analysis to guide personalized treatment strategies. Two primary approaches for genomic assessment are the detection of somatic variants, which arise in tumor cells, and germline variants, which are inherited and present in all cells of the body. Somatic mutations provide direct insights into tumor-specific alterations, enabling targeted therapies such as EGFR inhibitors in lung cancer or BRAF inhibitors in melanoma. In contrast, germline variants help identify hereditary cancer predisposition syndromes, guiding early detection and risk reduction strategies, as seen in BRCA1/2-related breast and ovarian cancers.

Both approaches have distinct advantages and limitations. Somatic testing offers real-time insights into tumor evolution and therapy resistance, while germline testing aids in understanding inherited risks and optimizing treatment selection. Emerging technologies, such as whole-genome sequencing and liquid biopsies, are improving the accuracy and feasibility of both methods. An integrated strategy combining somatic and germline testing may provide the most comprehensive framework for precision oncology.

Prioritizing one approach over the other depends on clinical context, tumor type, and therapeutic goals. Future directions include refining bioinformatics pipelines, expanding access to genetic testing, and addressing ethical and clinical implications of variant detection in oncology